Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACER2 Gene

Aliases for ACER2 Gene

  • Alkaline Ceramidase 2 2 3
  • N-Acylsphingosine Amidohydrolase 3-Like 2 4
  • Alkaline CDase 2 3 4
  • AlkCDase 2 3 4
  • ASAH3L 3 4
  • HaCER2 3 4
  • Acylsphingosine Deacylase 3-Like 4
  • Ceramide Hydrolase 3
  • EC 3.5.1.23 4
  • ALKCDase2 3

External Ids for ACER2 Gene

Previous HGNC Symbols for ACER2 Gene

  • ASAH3L

Previous GeneCards Identifiers for ACER2 Gene

  • GC09P019400

Summaries for ACER2 Gene

Entrez Gene Summary for ACER2 Gene

  • The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]

GeneCards Summary for ACER2 Gene

ACER2 (Alkaline Ceramidase 2) is a Protein Coding gene. Diseases associated with ACER2 include farber lipogranulomatosis and lipogranulomatosis. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include ceramidase activity and dihydroceramidase activity. An important paralog of this gene is ACER1.

UniProtKB/Swiss-Prot for ACER2 Gene

  • Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate.

Gene Wiki entry for ACER2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACER2 Gene

Genomics for ACER2 Gene

Regulatory Elements for ACER2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACER2 Gene

Start:
19,408,927 bp from pter
End:
19,452,620 bp from pter
Size:
43,694 bases
Orientation:
Plus strand

Genomic View for ACER2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACER2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACER2 Gene

Proteins for ACER2 Gene

  • Protein details for ACER2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5QJU3-ACER2_HUMAN
    Recommended name:
    Alkaline ceramidase 2
    Protein Accession:
    Q5QJU3
    Secondary Accessions:
    • A2A3R8
    • Q569G5
    • Q5VZR7
    • Q71RD2

    Protein attributes for ACER2 Gene

    Size:
    275 amino acids
    Molecular mass:
    31309 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ACER2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACER2 Gene

Proteomics data for ACER2 Gene at MOPED

Post-translational modifications for ACER2 Gene

Other Protein References for ACER2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ACER2 Gene

Domains for ACER2 Gene

Gene Families for ACER2 Gene

HGNC:
  • ACER :Alkaline ceramidase

Protein Domains for ACER2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACER2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5QJU3

UniProtKB/Swiss-Prot:

ACER2_HUMAN :
  • Q5QJU3
Family:
  • Belongs to the alkaline ceramidase family.
genes like me logo Genes that share domains with ACER2: view

Function for ACER2 Gene

Molecular function for ACER2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=81 uM for D-erythro-C(24:1)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269 PubMed:20089856}; Vmax=27 pmol/min/mg enzyme with D-erythro-C(24:1)-ceramide as substrate {ECO:0000269 PubMed:20089856}; pH dependence: Optimum pH is 7.5-9.0. {ECO:0000269 PubMed:20089856};
UniProtKB/Swiss-Prot CatalyticActivity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine
UniProtKB/Swiss-Prot EnzymeRegulation: Specifically activated by lumenal, but not cytosolic Ca(2+). Inhibited by Zn(2+) or Cu(2+). Mg(2+) or Mn(2+) have no effect on ceramidase activity.
UniProtKB/Swiss-Prot Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate.

Enzyme Numbers (IUBMB) for ACER2 Gene

Gene Ontology (GO) - Molecular Function for ACER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides --
GO:0017040 ceramidase activity IDA 16940153
GO:0071633 dihydroceramidase activity IDA 20628055
genes like me logo Genes that share ontologies with ACER2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACER2

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ACER2 Gene

Localization for ACER2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACER2 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACER2 Gene COMPARTMENTS Subcellular localization image for ACER2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA 16940153
GO:0016021 integral component of membrane --
GO:0030173 integral component of Golgi membrane IDA 20089856
genes like me logo Genes that share ontologies with ACER2: view

Pathways for ACER2 Gene

genes like me logo Genes that share pathways with ACER2: view

Pathways by source for ACER2 Gene

Interacting Proteins for ACER2 Gene

Gene Ontology (GO) - Biological Process for ACER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001953 negative regulation of cell-matrix adhesion IDA 18945876
GO:0006665 sphingolipid metabolic process TAS --
GO:0006672 ceramide metabolic process IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP 20628055
GO:0008284 positive regulation of cell proliferation IDA 16940153
genes like me logo Genes that share ontologies with ACER2: view

Compounds for ACER2 Gene

(123) HMDB Compounds for ACER2 Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available
genes like me logo Genes that share compounds with ACER2: view

Transcripts for ACER2 Gene

mRNA/cDNA for ACER2 Gene

(14) Selected AceView cDNA sequences:
(7) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACER2 Gene

Alkaline ceramidase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACER2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ACER2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACER2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for ACER2 Gene

GeneLoc Exon Structure for
ACER2
ECgene alternative splicing isoforms for
ACER2

Expression for ACER2 Gene

mRNA expression in normal human tissues for ACER2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACER2 Gene

This gene is overexpressed in Bladder (12.1).

SOURCE GeneReport for Unigene cluster for ACER2 Gene Hs.41379

mRNA Expression by UniProt/SwissProt for ACER2 Gene

Q5QJU3-ACER2_HUMAN
Tissue specificity: Highly expressed in placenta.
genes like me logo Genes that share expressions with ACER2: view

In Situ Assay Products

No data available for Protein expression for ACER2 Gene

Orthologs for ACER2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACER2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACER2 35
  • 99.52 (n)
  • 100 (a)
ACER2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACER2 35
  • 91.03 (n)
  • 95.27 (a)
ACER2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACER2 35
  • 92 (n)
  • 94.18 (a)
ACER2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acer2 35
  • 88.48 (n)
  • 93.09 (a)
Acer2 16
Acer2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACER2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACER2 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acer2 35
  • 89.94 (n)
  • 95.64 (a)
chicken
(Gallus gallus)
Aves ACER2 35
  • 80.85 (n)
  • 90.55 (a)
ACER2 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACER2 36
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10989 35
tropical clawed frog
(Silurana tropicalis)
Amphibia acer2 35
  • 76 (n)
  • 85.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ACER2 36
  • 82 (a)
OneToOne
LOC100331179 35
  • 72.85 (n)
  • 82.55 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008729 35
  • 56.19 (n)
  • 50.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta bwa 35
  • 57.16 (n)
  • 48.67 (a)
bwa 36
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_W02F12.2 35
  • 44.31 (n)
  • 30.16 (a)
W02F12.2 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for ACER2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACER2 Gene

ENSEMBL:
Gene Tree for ACER2 (if available)
TreeFam:
Gene Tree for ACER2 (if available)

Paralogs for ACER2 Gene

Paralogs for ACER2 Gene

Selected SIMAP similar genes for ACER2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for ACER2 Gene

genes like me logo Genes that share paralogs with ACER2: view

Variants for ACER2 Gene

Sequence variations from dbSNP and Humsavar for ACER2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs958841 -- 19,437,715(-) GGGCA(C/T)TTCAG intron-variant
rs1887488 -- 19,438,992(+) GCAAA(C/T)GGAGG intron-variant
rs2001604 -- 19,429,704(+) CTTTA(G/T)TTTTT intron-variant
rs2026626 -- 19,449,441(+) GTTTC(C/T)CATTT intron-variant
rs2026627 -- 19,449,686(+) caaga(A/C)cagcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACER2 Gene

Variant ID Type Subtype PubMed ID
nsv466286 CNV Gain 19166990
esv1361979 CNV Deletion 17803354
nsv416048 CNV Loss 16902084
nsv524474 CNV Gain 19592680
esv2738260 CNV Deletion 23290073
nsv831524 CNV Gain+Loss 17160897

Relevant External Links for ACER2 Gene

HapMap Linkage Disequilibrium report
ACER2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACER2 Gene

Disorders for ACER2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ACER2 Gene including...

Search for ACER2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ACER2 Gene

Relevant External Links for ACER2

Genetic Association Database (GAD)
ACER2
Human Genome Epidemiology (HuGE) Navigator
ACER2
genes like me logo Genes that share disorders with ACER2: view

No data available for UniProtKB/Swiss-Prot for ACER2 Gene

Publications for ACER2 Gene

  1. Alkaline ceramidase 2 regulates beta1 integrin maturation and cell adhesion. (PMID: 18945876) Sun W. … Mao C. (FASEB J. 2009) 2 3 4 23
  2. Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2). (PMID: 20089856) Sun W. … Mao C. (J. Biol. Chem. 2010) 3 4 23
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4

Products for ACER2 Gene

Sources for ACER2 Gene

Back to Top

Content